I taksa hian glucose hi a khawlkhawm tha thei lo a, a hmang thei lo em ni? Glycogen Storage Disease (GSD) chungchang hi han sawi ila!

Nang emaw, i fa emaw hian i chau reng em? A nih loh leh, a châng chuan rang takin i vawt a, i thawmhnaw a chhuak a, i lu i luak chhuak ṭhin em? Kea kal emaw, inkhelh lai emaw hian i chau vat em? A chang chuan hengte hi kan taksain chakna a thunun dan, chu chu sugar a hman danah harsatna tenau vang a ni thei. Vawiin hian natna hmuh tur awm lo, mi zawng zawng fimkhur a pawimawh em em chungchang kan sawi dawn a ni. Chu chu glycogen storage disease , doctor-te zingah `(Glycogen Storage Disease)` emaw a tawi zawngin `(GSD)` emaw tia hriat a ni bawk.

A awlsam zawngin, he ``(GSD)`` hian eng nge a awmzia?

Awle, tunah chuan he `(GSD)` hi eng nge a nih i en ang u. A awlsam zawngin kan taksain glycogen a hman dik loh leh a khawlkhawm theih lohna dinhmun a ni . Hengte hi metabolic disorder chi khat, inherited a ni a , chu chu nu leh pa atanga fate hnena kai darh tihna a ni.

Tunah chuan glycogen hi eng nge a nih i ngaihtuah mai thei. Glycogen hi kan taksain kan ei leh in atanga glucose, a nih loh leh sugar a khawlkhawm theihna tur a ni. I hriat angin glucose hi kan taksa chakna petu fuel ber a ni. He glucose hi kan ei leh in carbohydrates awmna atang hian kan hmu thin. Taksa hian vawi khatah heng glucose zawng zawng hi a mamawh lo. Chuvangin, taksa hian he glucose tam lutuk hi liver leh muscle-ah glycogen angin a dahkhawm thin. Nakinah chakna kan mamawh hunah hman theih a ni.

Kan taksain glucose atanga glycogen a siam dan hi glycogenesis an ti a . Chutiang bawkin, taksain chakna a mamawh leh chuan, he glycogen dahkhawm hi a chhe vek a, glucose-a siam lehna chu glycogenolysis an ti a ni. Enzyme hrang hrang hian heng thil pahnih ah hian a pui thin.

Glycogen storage disease (GSD) hi heng enzyme pakhat emaw a aia tam emaw a awm loh emaw, a thawk tha lo emaw a awm thin. Chumi awmzia chu taksain glycogen dahkhawm chu chakna atan a hmang thei lo va, thisen sugar level pawh a vawng tha thei lo tihna a ni. Hei hian harsatna engemaw zat a thlen thei a, chung zingah chuan thisen sugar level tlahniam fo (hypoglycemia) , liver chhiatna, leh taksa ruh chak lohna te pawh a tel.

`(GSD)` chi hrang hrang a awm em?

Ni e, kan taksa hian glycogen process nan enzyme hrang hrang a hman avangin GSD chi hrang hrang a awm a – a tlem berah 19! Doctor te hian chi thenkhat chu an hre tam hle a, mahse thenkhat erawh chu an la zir zel thung. GSD hian i liver emaw i taksa ruh emaw a nghawng ber. Mahse chi thenkhat chuan i taksa hmun dangah pawh harsatna a thlen thei bawk.

GSD chi tin hi glycogen dahkhawmna emaw, a chhe lai emawa inrawlh enzyme bik a tlakchham vang a ni. Hei hian enzyme chu a bo emaw, a tlem emaw tihna a ni. Doctor-te chuan heng chi hrang hrangte hi enzyme bo hming emaw, GSD hmuchhuak hmasa ber scientist emaw hming aṭangin an vuah ṭhin.

Glycogen dahkhawmna natna hi engtiang chiahin nge a hluar?

Dik tak chuan glycogen storage disease hi a awm lo hle a ni . ``(GSD)`` type I ``(GSD type I (von Gierke disease))`` tih hi a tam ber a ni a, nau piang 100,000 zinga pakhat vel ah a awm thin. Chuvangin hei hi a tlem zia chu i hmu thei ang.

GSD natna lan chhuahna chu engte nge ni?

GSD natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Chumi awmzia chu GSD chi khat nei mi pahnih pawhin symptom hrang hrang an nei thei tihna a ni. GSD Type I (the most common type) hian naute thla thum atanga thla li a nih atanga a lan chhuah tan tlangpui . Mahse, chi dang thenkhat chuan a hnuah symptom an nei thei a, a chang chuan tleirawl lai pawhin an lantir thei bawk.

Hetiang dinhmunah hian a lan chhuah dan lian ber pahnih chu thisen sugar tlahniam (hypoglycemia) leh/ emaw exercise laiin hah, tlan emaw, zuang emaw (exercise intolerance) te hi a ni.

Thisen sugar hniam (hypoglycemia) chu i thisen glucose level 70 mg/dL aia hniam a nih chuan a ni. Chutiang a nih chuan symptoms i nei thei a, chungte chu:

• I taksa a nghing ang maia inhriatna.
• Thawmhnaw hak leh khawsik tih hriat.
• Dizziness , lu inher chhuak tih hriatna.
• Chak lo leh nunna nei lo anga inhriatna.
• Lung na tak tak.
• A châng chuan, tuar theih loh riltamna a thleng ṭhin a, mi ṭhenkhat chuan hei hi ``hyperphagia'' an ti ṭhin.
• Ngaihtuah harsa, ngaihtuahna seng thei lo.
• Lungkhamna leh thinrimna nei.
• Vun a hring (pallor) a ni.
• A châng chuan, thisen sugar level a tlahniam lutuk chuan , seizures a awm thei .

I fate chu mawi takin a khel a, rang takin a khur a, a thawmhnaw a thawk a, a tawng pawh a tawng thei lo a nih chuan han ngaihtuah teh? Chutih lai chuan engtiang chiahin nge hlauhawm i tih ang? Chu chu hypoglycemia chu a ni.

Hei bakah hian feature dang `(GSD)` te pawh hmuh tur a awm bawk:

• Muscle cramps emaw, taksa chak lohna emaw.
• Naupangte thanna zawi leh taksa rihna tha lo.
• Liver lian tham (hepatomegaly) a awm.
• Muscle tone a hniam hle.
• Thisen a cholesterol a pung (hyperlipidemia).

Eng thilin nge GSD hi a thlen?

GSD thlentu ber chu inherited genetic mutations a ni . Heng genetic mutations te hian glycogen dahkhawm leh hmanna atana mamawh enzyme te hnathawh a nghawng a ni. Naupang chuan heng genetic mutations te hi an nu leh pa hnen atangin a rochun thin.

GSD tam zawk hian autosomal recessive inheritance pattern an nei a. Chumi awmzia chu naupangin he natna hi a neih theih nan chuan a genetic variation chu nu leh pa atanga rochun a ngai tihna a ni.

Mahse, chi thenkhat, GSD Group IX ang chi te chuan X-linked inheritance an nei . Chumi awmzia chu genetic mutation chu i X chromosome-ah a awm tihna a ni. Mipa (X chromosome pakhat chauh nei) hian he mutation hi a neih chuan natna hi a nei ang. Hmeichhiain X chromosome pakhatah he mutation hi a nei a, X chromosome dang chu a hrisel a nih chuan a tlangpuiin symptoms a lantir lo ang a, mahse natna kengtu a ni thei.

Engtin nge `(GSD)` ka neih leh neih loh ka hriat theih ang?

I fain GSD a vei em tih chiang taka hriat theih nan i fa doctor chuan test eng emaw zat a ti mai thei. GSD hi thil awm lo tak a nih avangin, dinhmun dangte chu paih chhuah a, eng ang GSD nge an neih tih chiang taka hriat theih nan hun engemaw chen a la ngai thei. Heng test-ah hian:

• Fasting blood sugar test: Zing lama engmah i ei loh hnua i thisen sugar level a hniam chuan GSD chhinchhiahna a ni thei.
• Ketone blood test: Taksain glucose a hman theih loh chuan chakna atan thau a hal thin . Hei hian ketones an tih thil a siam chhuak thin. GSD vei naupangte hian ketosis (thisen a ketones tihpun) state an nei fo thin.
• Basic metabolic panel: Hei hian naupang hriselna zawng zawng ngaihtuahna a pe thei a ni.
• Lipid panel: Hei hi a pawimawh bawk a, a chhan chu GSD-ah hian cholesterol sang (hyperlipidemia) a awm fo thin.
• Liver function test: Hengte hian i fa thin (liver) hriselna a enfiah thei a ni. Thil danglam a awm chuan GSD chhinchhiahna a ni thei.
• Urinalysis: Urinalysis hian creatinine level (kidney hnathawh tilangtu) leh uric acid level a enfiah thei a. GSD hian uric acid level sang tak (hyperuricemia) a lantir fo thin .
• Abdominal ultrasound: Hei hian naupang thin (liver) a lian em tih a enfiah thei a ni.
• Genetic testing: Hei hian enzyme hrang hrang nena inzawm gene-a harsatna awm leh awm loh a enfiah thin.

GSD chi hrang hrang hriat theihna tur genetic test bik awm mah se, a châng chuan i fa doctor chuan biopsy , chu chu a natna hriat chian nân liver emaw, taksa ruh emaw aṭanga tissue tê tê lak chhuah a ni tih a rawt thei a ni.

GSD hi engtin nge enkawl a nih?

Vanduaithlak takin glycogen storage natna hi damdawi a la awm lo . Enkawlna hi a natna lan chhuah dan (symptoms) control a tum ber a ni. GSD i neih chi hrang hrang a zirin enkawl dan tur a inang lo. Enkawlna kawng hrang hrang entir nan hetiang hi a ni:

• Thisen sugar hniam venna: Cornstarch tui lo emaw, chutiang chi nutritional supplement emaw chu a hun takah leh a zat dik taka pek hian thisen sugar level a nghet reng thei a ni. Cornstarch hi complex carbohydrate a ni a, taksa tan chuan a ei harsa deuh a ni. Chuvangin, ei leh in pangngaia awm carbohydrates aiin hun rei zawk thisen sugar level a control thei a ni. Tunah chuan sumdawnna atana hman tur thil tha zawk, taksaah rei zawk awm thei a awm ta. Hei hian zanlai pelh hnuah i ui chaw pek a ngai tawh lo bawk ang.
• Thisen sugar hniam enkawl dan: GSD vangin i thisen sugar a tlahniam a nih chuan carbohydrates hmanga enkawl nghal tur a ni. Chutiang a nih loh chuan hypoglycemia hi a na zual thei a, seizure leh coma ang chi harsatna a thlen thei bawk.
• Cholesterol sang control: Damdawi class pakhat statin an tih hian cholesterol level control-na a pui a.
• Uric acid level sang control: Damdawi allopurinol hian taksaa uric acid siam chhuah a ti tlem a.

GSD chi thenkhat (entir nan, GSD type II) hi enzyme replacement therapy (ERT) hmangin enkawl theih a ni. Hei hi IV infusion angin pek a ni tlangpui. ERT hi GSD chi dang atan hman theih a nih leh nih loh zirchianna neih mek a ni.

GSD vangin liver a chhiat nasat chuan liver transplant a ngai mai thei.

Glycogen storage natna hi ven theih a ni em?

Glycogen dahkhawmna natna hi genetic (inherited) condition a nih avangin kan venna tur engmah kan ti thei lo.

I chhungkuaa mi pakhatin GSD a vei a, fa neih i ngaihtuah a nih chuan, nang pawh hi he genetic variation carrier i nih leh nih loh hriat nan genetic counseling zawn hi a tha hle.

`(GSD)` vei mi pakhat hriselna dinhmun chu eng nge ni?

GSD chi tam zawkah chuan a hmaa hriatchhuah leh enkawl dan dik chuan damlo prognosis a ti tha thei a ni. Mahse, GSD chi thenkhat chu enkawl a harsa zawk. I doctor chuan i beisei tur chu a hre chiang zawk thei che a ni.

GSD avanga harsatna awm thei te chu engte nge ni?

GSD hian harsatna chi hrang hrang a thlen thei a ni. A innghat a ni:

• `(GSD)` type ah chuan.
• Natna hriatchhuah a tlai chuan.
• He natna hi uluk taka enkawl a nih loh chuan a la chhunzawm zel dawn a ni.

Entirnan, enkawl loh ``(GSD)`` Category I avanga harsatna awm thei thenkhat chu:

• Ruh density tlahniam, ruh tliak awlsam, leh ruh natna .
• Puberty hun sawn hlat.
• Gout tih hi a ni.
• Kal natna.
• Pulmonary hypertension a awm bawk.
• Liver-a cancer awm lo tumor (hepatic adenomas) a awm.
• Hmeichhia polycystic ovary syndrome (PCOS) nei te an ni.
• Pancreas natna (Pancreatitis) avanga natna hrik awm.
• Thisen sugar level hniam fo hian thluak hnathawh a tichhe thei a ni.

`(GSD)` vei dam chhung hi engzat nge ni?

Glycogen storage disease (GSD) vei dam rei zawng hi a chi hrang hrang, natna hmuhchhuah hma leh enkawl that dan azirin a inang lo. A chi thenkhat chu nausen laiin thihna thlen thei a ni a, thenkhat erawh chuan dam chhung pangngai a thlen thei thung. Hemi chungchangah hian i doctor chuan thurawn tha ber ber a pe thei che a ni.

Engtikah nge Doctor ka hmuh ang?

Nangmah emaw i fa emaw hian taksa ruh chak lohna emaw, thisen sugar tlahniam chhinchhiahna awm reng emaw i neih chuan doctor pan nghal tur a ni.

Glycogen dahkhawmna natna hi thil awm lo leh buaithlak tak a ni. Chuvangin, a theih chuan he natna chungchang leh a enkawl dan tur hrechiangtu doctor zawn chhuah a tha ber. I fate damdawi lam team chuan an tan enkawlna tha ber tur thutlukna siam turin i kalna apiangah an awmpui ang che.

Take-Home Thuchah: 1.1.

Chuvangin, tunah chuan kan sawi thin, Glycogen Storage Disease (GSD) hi hriatthiamna tha zawk in neih ka beisei. He thupui hi eng emaw chen chu thupui buaithlak tak ni mah se, a thupui berte hriat reng a pawimawh hle.

Hriat reng tur: GSD hi natna rare, rochun atanga lo piang, taksain glycogen (kan taksa sugar store) a hman dik loh tir thin pawl a ni.

• A lan chhuah dan ber: Thisen sugar tlahniam fo (hypoglycemia) leh exercise laiin hah chak lutuk.
• A chhan: Enzyme tlakchhamna hi genetic changes avanga lo awm a ni.
• Diagnosis: Thisen test, zun test, ultrasound, genetic test, leh biopsy pawh a ni thei.
• Enkawl dan: Symptomatic control hi a bulpui ber a ni. Diet (a bik takin cornstarch), a tul chuan damdawi, leh chi thenkhat tan enzyme replacement therapy (ERT) te.
• Thil pawimawh ber: Natna hriat hmasak leh enkawl dan dik chuan nun pangngai zawka i nun theih nan a pui thei che a ni. Symptoms i neih chuan doctor thurawn lak hi tihkhawtlai suh.

He thu hi i tan a tangkai ngei kan beisei. Hrisel takin awm rawh!